Canonical Allele Identifier: CA2653024192

Gene: KCNS1

Linked Data

• gnomAD v4: 20-45092878-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45092878C>A , CM000682.2:g.45092878C>A	GRCh38
NC_000020.10:g.43721519C>A , CM000682.1:g.43721519C>A	GRCh37
NC_000020.9:g.43154933C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000537075.3:c.*1992G>T MANE Select	ENSP00000445595.1:n.*1992G>T
ENST00000306117.5:c.*1992G>T	ENSP00000307694.1:n.*1992G>T
NM_002251.3:c.*1992G>T	NP_002242.2:n.*1992G>T
XM_005260409.3:c.*1992G>T	XP_005260466.1:n.*1992G>T
NM_001322799.1:c.*1992G>T	NP_001309728.1:n.*1992G>T
NM_002251.4:c.*1992G>T	NP_002242.2:n.*1992G>T
XM_017027846.1:c.*1992G>T	XP_016883335.1:n.*1992G>T
NM_001322799.2:c.*1992G>T MANE Select	NP_001309728.1:n.*1992G>T
NM_002251.5:c.*1992G>T	NP_002242.2:n.*1992G>T